Deficiencies, Protoporphyrinogen Oxidase
Protoporphyrinogen Oxidase Deficiency
An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 220.127.116.11) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen.